ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.-111G>A

gnomAD frequency: 0.48627  dbSNP: rs189037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304644 SCV000367016 benign Ataxia-telangiectasia syndrome 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000304644 SCV001723325 benign Ataxia-telangiectasia syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000860560 SCV001864392 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20816691, 22529920, 22960875, 20004998, 21108427, 23993922, 21937043)
Breakthrough Genomics, Breakthrough Genomics RCV000860560 SCV005230987 benign not provided criteria provided, single submitter not provided

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